Variant report

Variant	rs73815371
Chromosome Location	chr4:48832543-48832544
allele	C/G
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	TBL1XR1	chr4:48832529-48834759	K562	blood:	n/a	n/a
2	POLR2A	chr4:48832426-48834071	H1-hESC	embryonic stem cell:	n/a	n/a
3	HCFC1	chr4:48832083-48834043	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr4:48832502-48833518	K562	blood:	n/a	n/a
5	WRNIP1	chr4:48832496-48833932	GM12878	blood:	n/a	n/a
6	MAX	chr4:48832461-48833643	NB4	blood:	n/a	n/a
7	MAZ	chr4:48832459-48834117	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:48832519-48834029	U87	brain:	n/a	n/a
9	TAF1	chr4:48832474-48833969	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr4:48832444-48834155	GM12891	blood:	n/a	n/a
11	POLR2A	chr4:48832491-48833934	PBDE	blood:	n/a	n/a
12	MYC	chr4:48832464-48833879	K562	blood:	n/a	n/a
13	POLR2A	chr4:48832519-48834093	U87	brain:	n/a	n/a
14	ZC3H11A	chr4:48832537-48833458	K562	blood:	n/a	n/a
15	TBP	chr4:48832488-48834017	K562	blood:	n/a	n/a
16	MYC	chr4:48832482-48834040	K562	blood:	n/a	n/a
17	POLR2A	chr4:48832540-48833961	PFSK-1	brain:	n/a	n/a
18	MAX	chr4:48832461-48833843	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:48832489-48834058	SK-N-MC	brain:	n/a	n/a
20	TBP	chr4:48832425-48833856	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr4:48832500-48834057	HUVEC	blood vessel:	n/a	n/a
22	JUN	chr4:48832371-48834351	K562	blood:	n/a	chr4:48833052-48833061 chr4:48833051-48833064 chr4:48832474-48832483
23	MAX	chr4:48832528-48833710	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr4:48832528-48833623	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr4:48832539-48833934	SK-N-SH	brain:	n/a	chr4:48833052-48833061
26	MTA3	chr4:48832449-48833987	GM12878	blood:	n/a	n/a
27	MTA3	chr4:48832536-48834122	GM12878	blood:	n/a	n/a
28	E2F6	chr4:48832457-48833163	H1-hESC	embryonic stem cell:	n/a	chr4:48832888-48832900 chr4:48832476-48832485 chr4:48832884-48832899 chr4:48833003-48833012 chr4:48833053-48833062 chr4:48832813-48832825 chr4:48833051-48833060
29	RELA	chr4:48832434-48833922	GM15510	blood:	n/a	n/a
30	GABPA	chr4:48832474-48834125	MCF-7	breast:	n/a	chr4:48832944-48832958 chr4:48833002-48833013 chr4:48832940-48832949 chr4:48832938-48832952
31	POLR2A	chr4:48832387-48834005	Raji	blood:	n/a	n/a
32	REST	chr4:48832457-48834327	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:48780694..48783941-chr4:48830567..48835952,11	MCF-7	breast:
2	chr4:48831337..48833457-chr4:48856864..48859835,2	MCF-7	breast:
3	chr4:48780685..48782941-chr4:48832386..48835907,3	MCF-7	breast:
4	chr4:48832331..48834187-chr4:48907329..48910001,2	MCF-7	breast:
5	chr4:48831616..48834377-chr4:48906971..48910422,3	MCF-7	breast:

Variant related genes	Relation type
OCIAD1	TF binding region
ENSG00000145247	Chromatin interaction
ENSG00000075539	Chromatin interaction
ENSG00000109180	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs55909053	1.00[AFR][1000 genomes]
rs55948409	1.00[AFR][1000 genomes]
rs56013049	1.00[AFR][1000 genomes]
rs56077860	1.00[AFR][1000 genomes]
rs56196120	1.00[AFR][1000 genomes]
rs56229581	1.00[AFR][1000 genomes]
rs56393041	1.00[AFR][1000 genomes]
rs56784253	1.00[AFR][1000 genomes]
rs58706281	1.00[AFR][1000 genomes]
rs59582819	1.00[AFR][1000 genomes]
rs61152134	1.00[AFR][1000 genomes]
rs6447671	1.00[AFR][1000 genomes]
rs6447672	1.00[AFR][1000 genomes]
rs6447673	1.00[AFR][1000 genomes]
rs6815745	1.00[AFR][1000 genomes]
rs6829709	1.00[AFR][1000 genomes]
rs6842198	1.00[AFR][1000 genomes]
rs6842954	1.00[AFR][1000 genomes]
rs6844156	1.00[AFR][1000 genomes]
rs6849135	1.00[AFR][1000 genomes]
rs6850227	1.00[AFR][1000 genomes]
rs6850983	1.00[AFR][1000 genomes]
rs6857526	1.00[AFR][1000 genomes]
rs6857571	1.00[AFR][1000 genomes]
rs73815328	1.00[AFR][1000 genomes]
rs73815329	1.00[AFR][1000 genomes]
rs73815333	1.00[AFR][1000 genomes]
rs73815337	1.00[AFR][1000 genomes]
rs73815373	1.00[AFR][1000 genomes]
rs73815393	1.00[AFR][1000 genomes]
rs73815397	1.00[AFR][1000 genomes]
rs73815399	1.00[AFR][1000 genomes]
rs73817712	1.00[AFR][1000 genomes]
rs73817713	1.00[AFR][1000 genomes]
rs73817714	1.00[AFR][1000 genomes]
rs73817715	0.83[AFR][1000 genomes]
rs73817717	1.00[AFR][1000 genomes]
rs73817719	1.00[AFR][1000 genomes]
rs73817721	1.00[AFR][1000 genomes]
rs73817723	1.00[AFR][1000 genomes]
rs73817726	1.00[AFR][1000 genomes]
rs73817729	1.00[AFR][1000 genomes]
rs73817741	1.00[AFR][1000 genomes]
rs73817742	1.00[AFR][1000 genomes]
rs7658876	1.00[AFR][1000 genomes]
rs7674901	1.00[AFR][1000 genomes]
rs7676916	1.00[AFR][1000 genomes]
rs7682222	1.00[AFR][1000 genomes]
rs7684655	1.00[AFR][1000 genomes]
rs7695125	1.00[AFR][1000 genomes]
rs7700082	1.00[AFR][1000 genomes]
rs7700186	1.00[AFR][1000 genomes]
rs9685193	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv916809	chr4:48784318-49083302	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv879010	chr4:48794403-49061141	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv1008733	chr4:48827603-48971172	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv427680	chr4:48829607-49660117	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48831600-48832600	Enhancers	Brain Substantia Nigra	brain
2	chr4:48832000-48833000	Enhancers	Spleen	Spleen
3	chr4:48832200-48832600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:48832200-48832600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:48832200-48832600	Enhancers	Primary B cells from cord blood	blood
6	chr4:48832200-48832600	Enhancers	Primary T cells from cord blood	blood
7	chr4:48832200-48832600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:48832200-48832600	Enhancers	Brain Germinal Matrix	brain
9	chr4:48832200-48834800	Active TSS	Stomach Smooth Muscle	stomach
10	chr4:48832400-48832600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:48832400-48832600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:48832400-48832600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:48832400-48832600	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:48832400-48832600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr4:48832400-48832600	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:48832400-48832600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:48832400-48832600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:48832400-48832600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:48832400-48832600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:48832400-48832600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:48832400-48832600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:48832400-48832600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:48832400-48832600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:48832400-48832600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr4:48832400-48832600	Enhancers	Brain Angular Gyrus	brain
26	chr4:48832400-48832600	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:48832400-48832600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr4:48832400-48832600	Enhancers	Fetal Intestine Large	intestine
29	chr4:48832400-48832600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:48832400-48832600	Enhancers	Placenta	Placenta
31	chr4:48832400-48832600	Enhancers	Fetal Stomach	stomach
32	chr4:48832400-48832600	Enhancers	Fetal Thymus	thymus
33	chr4:48832400-48832600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr4:48832400-48832600	Enhancers	Stomach Mucosa	stomach
35	chr4:48832400-48832600	Active TSS	Thymus	Thymus
36	chr4:48832400-48832600	Flanking Active TSS	HepG2	liver
37	chr4:48832400-48832600	Enhancers	HMEC	breast
38	chr4:48832400-48832600	Enhancers	HSMMtube	muscle
39	chr4:48832400-48832600	Enhancers	HUVEC	blood vessel
40	chr4:48832400-48832600	Enhancers	Osteobl	bone
41	chr4:48832400-48832800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr4:48832400-48832800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:48832400-48832800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr4:48832400-48832800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr4:48832400-48832800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr4:48832400-48832800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:48832400-48832800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr4:48832400-48832800	Flanking Active TSS	A549	lung
49	chr4:48832400-48832800	Flanking Active TSS	GM12878-XiMat	blood
50	chr4:48832400-48832800	Flanking Active TSS	Hela-S3	cervix

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