Variant report

Variant	rs11681604
Chromosome Location	chr2:234338227-234338228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234338061-234338617	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234337631..234339943-chr2:234342706..234345543,2	K562	blood:
2	chr2:234326124..234329247-chr2:234337323..234339781,4	MCF-7	breast:
3	chr2:234333282..234336244-chr2:234336565..234338970,2	K562	blood:
4	chr2:234331362..234333513-chr2:234338098..234340435,2	MCF-7	breast:
5	chr2:234326778..234329463-chr2:234337161..234339349,2	MCF-7	breast:

No data

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1048603	1.00[CHB][hapmap]
rs2085128	0.81[ASN][1000 genomes]
rs2242098	0.81[ASN][1000 genomes]
rs2290464	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs2305542	0.93[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28562308	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2879871	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2971855	0.82[ASW][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[MKK][hapmap];0.81[ASN][1000 genomes]
rs4663699	1.00[CHB][hapmap]
rs6431435	0.87[EUR][1000 genomes]
rs6714168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6722763	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6759246	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs7566221	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs7568534	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs7572257	0.95[CHD][hapmap]
rs7576633	0.88[CEU][hapmap]
rs7580412	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs838546	1.00[CHB][hapmap]
rs838547	1.00[CHB][hapmap]
rs838554	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:234328800-234343000	Weak transcription	Liver	Liver
4	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
6	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
7	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:234331200-234340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:234331200-234343400	Weak transcription	Thymus	Thymus
17	chr2:234331200-234344000	Weak transcription	Dnd41	blood
18	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
19	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:234332600-234339800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:234333200-234343200	Weak transcription	HepG2	liver
22	chr2:234333200-234344000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:234333400-234343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:234333400-234343000	Weak transcription	Colonic Mucosa	Colon
25	chr2:234333400-234343000	Weak transcription	Spleen	Spleen
26	chr2:234333400-234344600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:234333400-234345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:234333600-234338600	Weak transcription	NHLF	lung
29	chr2:234333600-234339200	Enhancers	Stomach Mucosa	stomach
30	chr2:234333600-234343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:234333600-234343200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:234333600-234343400	Weak transcription	Lung	lung
33	chr2:234333800-234343800	Weak transcription	Fetal Intestine Large	intestine
34	chr2:234334000-234343400	Weak transcription	Fetal Intestine Small	intestine
35	chr2:234334200-234339800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:234334200-234340200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:234334400-234339400	Enhancers	HSMM	muscle
38	chr2:234334800-234339200	Enhancers	K562	blood
39	chr2:234335000-234338600	Enhancers	Left Ventricle	heart
40	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:234335400-234339800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:234335400-234340000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:234335600-234338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:234335600-234340400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:234335600-234343200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:234335600-234343600	Strong transcription	Primary B cells from cord blood	blood
47	chr2:234335600-234344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:234335600-234344000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:234335600-234344800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:234335800-234339200	Enhancers	Primary T cells fromperipheralblood	blood

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