Variant report

Variant	rs4942997
Chromosome Location	chr13:51944954-51944955
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:51944875-51945491	SK-N-MC	brain:	n/a	n/a
2	CTCF	chr13:51944948-51944992	LNCaP	prostate:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51940002..51941711-chr13:51943735..51945568,2	K562	blood:
2	chr13:51938430..51941174-chr13:51944104..51948197,3	MCF-7	breast:

Variant related genes	Relation type
INTS6	TF binding region

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs11148215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148219	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11838784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11839165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11842573	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11843638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11843641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12100084	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12100112	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12584325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12585343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12586110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1413103	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570549	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1570550	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17194921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17194928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17194935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17194955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17194985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17529985	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17790811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17790838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941697	1.00[AMR][1000 genomes]
rs4941699	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs4942992	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4942993	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4942994	0.96[EUR][1000 genomes]
rs4942995	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4942996	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4942998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942999	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs59024783	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59215783	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60860538	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956888	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956889	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956911	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61956913	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61956914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61956917	0.93[EUR][1000 genomes]
rs61956937	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61956938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956942	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61956943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956944	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956945	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61956947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956949	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956950	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956951	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956952	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61956955	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958268	1.00[ASN][1000 genomes]
rs73195977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73195982	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73195996	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73197808	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338174	0.81[EUR][1000 genomes]
rs7400061	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988157	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7990114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7992891	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs7995268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001625	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9316535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9526756	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9563041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563047	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9563049	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9563050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563052	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563053	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563054	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563055	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs9563056	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568564	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568565	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568572	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568575	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568580	0.81[EUR][1000 genomes]
rs9568581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9568585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568586	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9568588	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568590	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568591	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568592	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568594	0.93[EUR][1000 genomes]
rs9568596	0.93[EUR][1000 genomes]
rs9568609	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568610	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9568635	1.00[CEU][hapmap]
rs9634684	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9634685	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9634839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9634840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9634844	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51918600-51945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51932000-51945800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:51932000-51947400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr13:51933400-51945400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:51933600-51947600	Weak transcription	Brain Substantia Nigra	brain
6	chr13:51933800-51947400	Weak transcription	Brain Germinal Matrix	brain
7	chr13:51934000-51947000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:51934200-51945000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:51934200-51958400	Strong transcription	Placenta	Placenta
10	chr13:51934200-51959800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:51934400-51945800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:51934400-51947400	Weak transcription	Psoas Muscle	Psoas
13	chr13:51934400-51963800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:51934600-51946200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:51934600-51955800	Weak transcription	Fetal Intestine Small	intestine
16	chr13:51935000-51949400	Weak transcription	Colonic Mucosa	Colon
17	chr13:51935400-51957800	Strong transcription	Fetal Thymus	thymus
18	chr13:51935400-51959600	Strong transcription	GM12878-XiMat	blood
19	chr13:51935600-51954000	Weak transcription	Stomach Mucosa	stomach
20	chr13:51935600-51971400	Weak transcription	Gastric	stomach
21	chr13:51935800-51954800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr13:51935800-51962000	Strong transcription	Dnd41	blood
23	chr13:51936000-51947600	Weak transcription	Small Intestine	intestine
24	chr13:51936200-51963600	Strong transcription	Liver	Liver
25	chr13:51936400-51966000	Weak transcription	Right Ventricle	heart
26	chr13:51937000-51949800	Weak transcription	Fetal Brain Male	brain
27	chr13:51937400-51953200	Strong transcription	Fetal Intestine Large	intestine
28	chr13:51937400-51961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:51937600-51945000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:51937600-51947400	Weak transcription	K562	blood
31	chr13:51937600-51954400	Weak transcription	Fetal Heart	heart
32	chr13:51938200-51960000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr13:51938400-51945200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:51938400-51959200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr13:51938400-51959600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr13:51938600-51945200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr13:51938600-51945200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:51938600-51952200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr13:51938600-51959400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:51938600-51960400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr13:51938600-51961800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr13:51938800-51954400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr13:51939200-51945000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr13:51939200-51947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:51939200-51949000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:51939200-51954400	Strong transcription	HMEC	breast
47	chr13:51939200-51954600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:51939200-51970600	Weak transcription	Brain Angular Gyrus	brain
49	chr13:51939400-51945000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr13:51939400-51962200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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