Variant report

Variant	rs6947450
Chromosome Location	chr7:2971935-2971936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:2971898-2971948	HCM	heart:	n/a
2	chr7:2971898-2971948	SKMC	muscle:	n/a
3	chr7:2971898-2971948	AG04449	skin:	fetal
4	chr7:2971898-2971948	AG04450	lung:	fetal
5	chr7:2971898-2971948	GM12892	blood:	n/a
6	chr7:2971898-2971948	NHDF-neo	bronchial:	n/a
7	chr7:2971898-2971948	ProgFib	skin:	n/a
8	chr7:2971898-2971948	A549	lung:	n/a
9	chr7:2971898-2971948	HAEpiC	amniotic membrane:	n/a
10	chr7:2971898-2971948	AG09319	gingival:	n/a
11	chr7:2971898-2971948	ECC-1	luminal epithelium:	n/a
12	chr7:2971898-2971948	HMEC	breast:	n/a
13	chr7:2971898-2971948	HEK293	kidney:	embryo
14	chr7:2971898-2971948	IMR90	lung:	fetal
15	chr7:2971898-2971948	GM19239	blood:	n/a
16	chr7:2971898-2971948	HL-60	blood:	n/a
17	chr7:2971898-2971948	Hepatocyte	liver:	n/a
18	chr7:2971898-2971948	SK-N-SH	brain:	n/a
19	chr7:2971898-2971948	NH-A	brain:	n/a
20	chr7:2971898-2971948	BJ	skin:	n/a
21	chr7:2971898-2971948	NB4	blood:	n/a
22	chr7:2971898-2971948	AG09309	skin:	n/a
23	chr7:2971898-2971948	HUVEC	blood vessel:	n/a
24	chr7:2971898-2971948	HRPEpiC	eye:	n/a
25	chr7:2971898-2971948	CMK	blood:	n/a
26	chr7:2971898-2971948	Hela-S3	cervix:	n/a
27	chr7:2971898-2971948	Jurkat	blood:	n/a
28	chr7:2971898-2971948	NHBE	bronchial:	n/a
29	chr7:2971898-2971948	HIPEpiC	eye:	n/a
30	chr7:2971898-2971948	Caco-2	colon:	n/a
31	chr7:2971898-2971948	HCT-116	colon:	n/a
32	chr7:2971898-2971948	GM12878	blood:	n/a
33	chr7:2971898-2971948	MCF-7	breast:	n/a
34	chr7:2971898-2971948	HRE	kidney:	n/a
35	chr7:2971898-2971948	RPTEC	kidney:	n/a
36	chr7:2971898-2971948	U87	brain:	n/a
37	chr7:2971898-2971948	SAEC	small airway:	n/a
38	chr7:2971898-2971948	AoSMC	blood vessel:	n/a
39	chr7:2971898-2971948	HepG2	liver:	n/a
40	chr7:2971898-2971948	HEEpiC	esophagus:	n/a
41	chr7:2971898-2971948	NT2-D1	testis:	n/a
42	chr7:2971898-2971948	PrEC	prostate:	n/a
43	chr7:2971898-2971948	K562	blood:	n/a
44	chr7:2971898-2971948	LNCaP	prostate:	n/a
45	chr7:2971898-2971948	HCPEpiC	choroid plexus:	n/a
46	chr7:2971898-2971948	PFSK-1	brain:	n/a
47	chr7:2971898-2971948	GM06990	blood:	n/a
48	chr7:2971898-2971948	SK-N-SH_RA	brain:	n/a
49	chr7:2971898-2971948	HNPCEpiC	eye:	n/a
50	chr7:2971898-2971948	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
CARD11	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57846608	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS 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	28 gene(s)	inside rSNPs	diseases
2	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1025727	chr7:2938301-3064008	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv984495	chr7:2943735-2979225	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv528122	chr7:2955097-2976767	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2933400-2987200	Weak transcription	Gastric	stomach
2	chr7:2943800-2988200	Strong transcription	Primary T cells from cord blood	blood
3	chr7:2944000-2988200	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:2944200-2981800	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr7:2944200-2987400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:2944400-2986800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:2944400-2987400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:2944400-2988400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:2944800-2987400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:2944800-2987600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:2944800-2987600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:2945400-2987400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:2948400-2980600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr7:2949800-2977400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:2951000-2988400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:2954000-2984800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:2957000-2988000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:2960000-2974000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:2960200-2978600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:2961600-2977800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:2962600-2974800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:2963000-2977400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:2966800-2973600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:2966800-2974600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:2967400-2983000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:2967600-2985800	Strong transcription	Thymus	Thymus
27	chr7:2968200-2973000	Strong transcription	Spleen	Spleen
28	chr7:2968400-2974600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:2968600-2983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:2968600-2999400	Weak transcription	Right Atrium	heart
31	chr7:2968800-2974800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:2968800-2992000	Weak transcription	Esophagus	oesophagus
33	chr7:2969200-2972000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:2969200-2972400	Weak transcription	NHEK	skin
35	chr7:2969400-2972800	Weak transcription	Fetal Intestine Large	intestine
36	chr7:2969600-2977800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:2969800-2972000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:2970000-2987400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:2970400-2975400	Strong transcription	Primary B cells from cord blood	blood
40	chr7:2970600-2972400	Weak transcription	Brain Germinal Matrix	brain
41	chr7:2970800-2973000	Enhancers	Fetal Brain Male	brain
42	chr7:2971400-2986400	Strong transcription	Fetal Thymus	thymus
43	chr7:2971600-2972800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:2971600-2972800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:2971600-2972800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr7:2971600-2978600	Strong transcription	GM12878-XiMat	blood
47	chr7:2971600-2980200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:2971800-2972600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:2971800-2973000	Enhancers	Fetal Brain Female	brain
50	chr7:2971800-2974200	Strong transcription	Fetal Intestine Small	intestine

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