Variant report

Variant	rs7977723
Chromosome Location	chr12:10516599-10516600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr12:10516330-10516752	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:10515233-10518021	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:10516544-10517857	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:10516250-10517851	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:10516468-10517960	Hela-S3	cervix:	n/a	n/a
6	SPI1	chr12:10516585-10517546	GM12891	blood:	n/a	n/a
7	POLR2A	chr12:10515864-10517381	K562	blood:	n/a	n/a
8	POLR2A	chr12:10516072-10518073	GM12891	blood:	n/a	n/a
9	IRF4	chr12:10516507-10517862	GM12878	blood:	n/a	chr12:10517695-10517716
10	POLR2A	chr12:10516552-10517869	K562	blood:	n/a	n/a
11	IRF1	chr12:10515959-10518392	K562	blood:	n/a	chr12:10517695-10517716
12	UBTF	chr12:10516451-10517456	K562	blood:	n/a	n/a
13	NFIC	chr12:10515243-10518076	GM12878	blood:	n/a	n/a
14	TCF7L2	chr12:10516387-10518166	Hela-S3	cervix:	n/a	n/a
15	POU2F2	chr12:10516454-10517701	GM12891	blood:	n/a	n/a
16	CHD2	chr12:10516419-10517248	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:10516590-10518268	SK-N-MC	brain:	n/a	n/a
18	FOXM1	chr12:10515269-10517964	GM12878	blood:	n/a	n/a
19	IRF4	chr12:10516590-10518032	GM12878	blood:	n/a	chr12:10517695-10517716
20	ZNF263	chr12:10516212-10518416	HEK293-T-REx	kidney:	n/a	n/a
21	CEBPB	chr12:10515495-10517606	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:10516578-10517326	GM12892	blood:	n/a	n/a
23	POLR2A	chr12:10516474-10517340	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:10516134-10517838	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:10516071-10518125	GM12891	blood:	n/a	n/a
26	POLR2A	chr12:10516193-10518077	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr12:10516177-10518391	GM12878	blood:	n/a	n/a
28	RCOR1	chr12:10515717-10516714	K562	blood:	n/a	n/a
29	ELF1	chr12:10516338-10516768	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:10515946-10517794	K562	blood:	n/a	n/a
31	POLR2A	chr12:10516300-10517832	GM12892	blood:	n/a	n/a
32	MTA3	chr12:10515355-10518224	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:10516194-10517341	GM12891	blood:	n/a	n/a
34	TEAD4	chr12:10515821-10516624	K562	blood:	n/a	n/a
35	RUNX3	chr12:10516152-10518112	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:10516500-10517151	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr12:10516479-10517908	U87	brain:	n/a	n/a
38	POLR2A	chr12:10516449-10517354	K562	blood:	n/a	n/a
39	POLR2A	chr12:10516538-10517913	GM12892	blood:	n/a	n/a
40	TBL1XR1	chr12:10515872-10516665	K562	blood:	n/a	n/a
41	ATF2	chr12:10516513-10517982	GM12878	blood:	n/a	n/a
42	RELA	chr12:10515160-10518228	GM12891	blood:	n/a	n/a
43	JUND	chr12:10515840-10517315	K562	blood:	n/a	n/a
44	STAT5A	chr12:10516213-10518065	GM12878	blood:	n/a	n/a
45	KAP1	chr12:10515697-10518370	U2OS	brain:	n/a	n/a
46	POLR2A	chr12:10516534-10517885	U87	brain:	n/a	n/a
47	POLR2A	chr12:10516361-10518435	Hela-S3	cervix:	n/a	n/a
48	BHLHE40	chr12:10516495-10517792	K562	blood:	n/a	n/a
49	YY1	chr12:10516349-10516613	GM12878	blood:	n/a	n/a
50	POU2F2	chr12:10516537-10517798	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLRD1-1	chr12:10516368-10516632	ENSG00000245648

No data

Variant related genes	Relation type
ENSG00000256155	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57715513	1.00[AMR][1000 genomes]
rs57963034	1.00[AMR][1000 genomes]
rs7957124	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974519	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3432683	chr12:10470734-10527581	Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3351751	chr12:10472734-10522269	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10513400-10517000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:10513600-10516600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:10513600-10516600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:10513600-10516600	Weak transcription	Aorta	Aorta
5	chr12:10514000-10516600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:10514000-10516800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:10514000-10517200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:10514200-10516800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:10514400-10516600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:10514600-10516600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:10514600-10516600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:10514800-10517000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:10515000-10516600	Enhancers	Primary B cells from cord blood	blood
14	chr12:10515000-10516600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:10515000-10516600	Enhancers	Fetal Thymus	thymus
16	chr12:10515000-10516800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:10515000-10516800	Enhancers	Dnd41	blood
18	chr12:10515000-10517200	Flanking Active TSS	NHEK	skin
19	chr12:10515200-10516800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:10515200-10516800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:10515200-10516800	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:10515200-10516800	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:10515200-10516800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:10515200-10517200	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr12:10515200-10517400	Flanking Active TSS	Hela-S3	cervix
26	chr12:10515200-10518600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:10515400-10517400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:10515400-10518600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:10515600-10516600	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr12:10515600-10516600	Enhancers	Fetal Heart	heart
31	chr12:10515600-10516600	Enhancers	NH-A	brain
32	chr12:10515600-10516800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:10515600-10516800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:10515600-10517200	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr12:10515600-10518200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:10515600-10518200	Active TSS	Brain Anterior Caudate	brain
37	chr12:10515800-10516600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:10515800-10516600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:10515800-10516600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:10515800-10516800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:10515800-10518200	Active TSS	Fetal Kidney	kidney
42	chr12:10516000-10516800	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr12:10516000-10517200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:10516000-10517200	Flanking Active TSS	HMEC	breast
45	chr12:10516000-10518000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr12:10516000-10518200	Active TSS	Colon Smooth Muscle	Colon
47	chr12:10516000-10518200	Active TSS	Fetal Stomach	stomach
48	chr12:10516000-10518400	Active TSS	K562	blood
49	chr12:10516200-10516600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr12:10516200-10516600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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